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Saito Kayoko
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Professor (Fixed Term) |
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| Article types | Original article |
| Language | English |
| Peer review | Peer reviewed |
| Title | A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor. |
| Journal | Formal name：Pediatric neurology Abbreviation：Pediatr Neurol ISSN code：18735150/08878994 |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 146,pp.16-20 |
| Author and coauthor | Uneoka Saki, Kobayashi Tomoko, Numata-Uematsu Yurika, Oikawa Yoshitsugu, Katata Yu, Okubo Yukimune, Abe Yu, Kikuchi Atsuo, Takayama Jun, Tamiya Gen, Kure Shigeo, Saito Kayoko, Uematsu Mitsugu |
| Publication date | 2023/06 |
| Summary | Myosin-binding protein C1 (MYBPC1) encodes myosin-binding protein C, slow type (sMyBP-C), an accessory protein that regulates actomyosin cross-linking, stabilizes thick filaments, and modulates contractility in muscle sarcomeres and has recently been linked to myopathy with tremor. The clinical features of MYBPC1 mutations manifesting in early childhood bear some similarities to those of spinal muscular atrophy (SMA), such as hypotonia, involuntary movement of the tongue and limbs, and delayed motor development. The development of novel therapies for SMA has necessitated the importance of differentiating SMA from other diseases in the early infancy period. We report the characteristic tongue movements of MYBPC1 mutations, along with other clinical findings, such as positive deep tendon reflexes and normal peripheral nerve conduction velocity testing, which could help in considering other diseases as differential diagnoses. |
| DOI | 10.1016/j.pediatrneurol.2023.06.002 |
| PMID | 37392669 |